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Items: 39

1.

The sixth international RASopathies symposium: Precision medicine-From promise to practice.

Gripp KW, Schill L, Schoyer L, Stronach B, Bennett AM, Blaser S, Brown A, Burdine R, Burkitt-Wright E, Castel P, Darilek S, Dias A, Dyer T, Ellis M, Erickson G, Gelb BD, Green T, Gross A, Ho A, Holder JL Jr, Inoue SI, Jelin AC, Kennedy A, Klein R, Kontaridis MI, Magoulas P, McConnell DB, McCormick F, Neel BG, Prada CE, Rauen KA, Roberts A, Rodriguez-Viciana P, Rosen N, Rumbaugh G, Sablina A, Solman M, Tartaglia M, Thomas A, Timmer WC, Venkatachalam K, Walsh KS, Wolters PL, Yi JS, Zenker M, Ratner N.

Am J Med Genet A. 2019 Dec 11. doi: 10.1002/ajmg.a.61434. [Epub ahead of print]

PMID:
31825160
2.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K.

Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.

3.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ.

Hum Mol Genet. 2019 Sep 1;28(17):2900-2919. doi: 10.1093/hmg/ddz111.

PMID:
31127942
4.

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V, Malintan NT, Llano-Rivas I, Spaeth CG, Efthymiou S, Striano P, Vandrovcova J, Cutrupi MC, Chimenz R, David E, Di Rosa G, Marce-Grau A, Raspall-Chaure M, Martin-Hernandez E, Zara F, Minetti C; Deciphering Developmental Disorders Study; SYNAPS Study Group, Bello OD, De Zorzi R, Fortuna S, Dauber A, Alkhawaja M, Sultan T, Mankad K, Vitobello A, Thomas Q, Mau-Them FT, Faivre L, Martinez-Azorin F, Prada CE, Macaya A, Kullmann DM, Rothman JE, Krishnakumar SS, Houlden H.

Am J Hum Genet. 2019 Apr 4;104(4):721-730. doi: 10.1016/j.ajhg.2019.02.016. Epub 2019 Mar 28.

5.

Prevalence of pathogenic and likely pathogenic variants in the RASopathy genes in patients who have had panel testing for cardiomyopathy.

Aljeaid D, Sanchez AI, Wakefield E, Chadwell SE, Moore N, Prada CE, Zhang W.

Am J Med Genet A. 2019 Apr;179(4):608-614. doi: 10.1002/ajmg.a.61072. Epub 2019 Feb 14.

PMID:
30762279
6.

Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1.

Kongkriangkai AM, King C, Martin LJ, Wakefield E, Prada CE, Kelly-Mancuso G, Schorry EK.

Am J Med Genet A. 2019 Apr;179(4):602-607. doi: 10.1002/ajmg.a.61069. Epub 2019 Feb 8.

PMID:
30737893
7.

Vitamin D deficiency and pre-eclampsia in Colombia: PREVitD study.

Serrano NC, Guío E, Quintero-Lesmes DC, Becerra-Bayona S, Luna-Gonzalez ML, Herrera VM, Prada CE.

Pregnancy Hypertens. 2018 Oct;14:240-244. doi: 10.1016/j.preghy.2018.03.006. Epub 2018 Mar 14.

PMID:
29588145
8.

Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.

Serai SD, Naidu AP, Andrew Burrow T, Prada CE, Xanthakos S, Towbin AJ.

Mol Genet Metab. 2018 Mar;123(3):357-363. doi: 10.1016/j.ymgme.2017.10.013. Epub 2018 Jan 5.

PMID:
29361370
9.

Widespread Vasculopathy in a Patient with Morquio A Syndrome.

Powell AW, Taylor MD, Burrow TA, Hopkin RJ, Prada CE, Jefferies JL.

Tex Heart Inst J. 2017 Dec 19;44(6):420-423. doi: 10.14503/THIJ-16-6121. eCollection 2017 Dec.

10.

Cardiac Rhabdomyomas in Tuberous Sclerosis Complex.

Castro-Monsalve J, Alvarado-Socarras JL, Mantilla KA, Forero L, Moreno A, Prada CE.

J Pediatr. 2018 Jan;192:264-264.e1. doi: 10.1016/j.jpeds.2017.09.050. Epub 2017 Nov 8. No abstract available.

PMID:
29128117
11.

Case report: Left ventricular noncompaction cardiomyopathy and RASopathies.

Sublett JA, Prada CE, Jefferies JL.

Eur J Med Genet. 2017 Dec;60(12):680-684. doi: 10.1016/j.ejmg.2017.09.002. Epub 2017 Sep 12.

PMID:
28911804
12.

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA.

Am J Med Genet A. 2017 Oct;173(10):2814-2820. doi: 10.1002/ajmg.a.38404. Epub 2017 Aug 17.

PMID:
28815955
13.

A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.

Zhang W, Oehrle M, Prada CE, Schwartz IVD, Chutipongtanate S, Wattanasirichaigoon D, Inskeep V, Dai M, Pan D, Sun Y, Setchell KDR.

Analyst. 2017 Sep 8;142(18):3380-3387. doi: 10.1039/c7an00938k.

PMID:
28812093
14.

Determination of Anti-Adeno-Associated Viral Vector Neutralizing Antibodies in Patients With Heart Failure in the Cardiovascular Foundation of Colombia (ANVIAS): Study Protocol.

Rincon MY, Prada CE, Lopez M, Castillo V, Echeverria LE, Serrano N.

JMIR Res Protoc. 2016 Jun 9;5(2):e102. doi: 10.2196/resprot.5535.

15.

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ.

Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005.

16.

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.

Prada CE, Hufnagel RB, Hummel TR, Lovell AM, Hopkin RJ, Saal HM, Schorry EK.

J Pediatr. 2015 Oct;167(4):851-856.e1. doi: 10.1016/j.jpeds.2015.07.001. Epub 2015 Jul 29.

PMID:
26233602
17.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.

Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.

18.

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D.

Genet Med. 2016 Feb;18(2):162-7. doi: 10.1038/gim.2015.45. Epub 2015 Apr 9.

PMID:
25856670
19.

Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease.

Villamizar-Schiller IT, Pabón LA, Hufnagel SB, Serrano NC, Karl G, Jefferies JL, Hopkin RJ, Prada CE.

Eur J Med Genet. 2015 Mar;58(3):180-3. doi: 10.1016/j.ejmg.2014.12.009. Epub 2014 Dec 12.

PMID:
25497207
20.

Endothelial dysfunction and preeclampsia: role of oxidative stress.

Sánchez-Aranguren LC, Prada CE, Riaño-Medina CE, Lopez M.

Front Physiol. 2014 Oct 10;5:372. doi: 10.3389/fphys.2014.00372. eCollection 2014. Review.

21.

CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.

Burrow TA, Sun Y, Prada CE, Bailey L, Zhang W, Brewer A, Wu SW, Setchell KDR, Witte D, Cohen MB, Grabowski GA.

Mol Genet Metab. 2015 Feb;114(2):233-241. doi: 10.1016/j.ymgme.2014.08.011. Epub 2014 Sep 2.

22.

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VR.

Eur J Med Genet. 2014 Jul;57(7):339-344. doi: 10.1016/j.ejmg.2014.04.005. Epub 2014 Apr 24.

23.

Globus pallidus involvement as initial presentation of methylmalonic acidemia.

Prada CE, Villamizar-Schiller IT.

Mov Disord. 2014 Jun;29(7):870. doi: 10.1002/mds.25890. Epub 2014 Apr 21. No abstract available.

PMID:
24753033
24.

Neuronopathic lysosomal storage diseases: clinical and pathologic findings.

Prada CE, Grabowski GA.

Dev Disabil Res Rev. 2013;17(3):226-46. doi: 10.1002/ddrr.1116. Review.

PMID:
23798011
25.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC.

Mol Syndromol. 2013 Mar;4(3):107-13. doi: 10.1159/000342486. Epub 2012 Oct 2.

26.

Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.

Tenney JR, Prada CE, Hopkin RJ, Hallinan BE.

J Child Neurol. 2013 Dec;28(12):1681-5. doi: 10.1177/0883073812464273. Epub 2012 Nov 8.

PMID:
23143729
27.

Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition.

Prada CE, Jousma E, Rizvi TA, Wu J, Dunn RS, Mayes DA, Cancelas JA, Dombi E, Kim MO, West BL, Bollag G, Ratner N.

Acta Neuropathol. 2013 Jan;125(1):159-68. doi: 10.1007/s00401-012-1056-7. Epub 2012 Oct 26.

28.

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships.

Sund KL, Zimmerman SL, Thomas C, Mitchell AL, Prada CE, Grote L, Bao L, Martin LJ, Smolarek TA.

Genet Med. 2013 Jan;15(1):70-8. doi: 10.1038/gim.2012.94. Epub 2012 Aug 2.

PMID:
22858719
29.

Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.

Prada CE, Jefferies JL, Grenier MA, Huth CM, Page KI, Spicer RL, Towbin JA, Leslie ND.

Pediatrics. 2012 Aug;130(2):e456-60. doi: 10.1542/peds.2011-2927. Epub 2012 Jul 9.

PMID:
22778304
30.

Recurrent pancreatitis in ornithine transcarbamylase deficiency.

Prada CE, Kaul A, Hopkin RJ, Page KI, Nathan JD, Bartholomew DW, Cohen MB, Heubi JE, Leslie ND, Burrow TA.

Mol Genet Metab. 2012 Aug;106(4):482-4. doi: 10.1016/j.ymgme.2012.06.005. Epub 2012 Jun 15.

PMID:
22728053
31.

Genetic causes of macroglossia: diagnostic approach.

Prada CE, Zarate YA, Hopkin RJ.

Pediatrics. 2012 Feb;129(2):e431-7. doi: 10.1542/peds.2011-1732. Epub 2012 Jan 16.

PMID:
22250026
32.

Severe cervical scoliosis in the fetus.

Prada CE, Sellars EA, Spaeth CG, Kline-Fath BM, Crombleholme TM, Hopkin RJ.

Prenat Diagn. 2011 Dec;31(12):1198-202. doi: 10.1002/pd.2898. Epub 2011 Oct 26.

PMID:
22031186
33.

Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1.

Prada CE, Rangwala FA, Martin LJ, Lovell AM, Saal HM, Schorry EK, Hopkin RJ.

J Pediatr. 2012 Mar;160(3):461-7. doi: 10.1016/j.jpeds.2011.08.051. Epub 2011 Oct 11.

PMID:
21996156
34.

Cardiac disease in methylmalonic acidemia.

Prada CE, Al Jasmi F, Kirk EP, Hopp M, Jones O, Leslie ND, Burrow TA.

J Pediatr. 2011 Nov;159(5):862-4. doi: 10.1016/j.jpeds.2011.06.005. Epub 2011 Jul 23.

PMID:
21784454
35.

Lethal presentation of neurofibromatosis and Noonan syndrome.

Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ.

Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12.

PMID:
21567923
36.

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Diggle CP, Carr IM, Zitt E, Wusik K, Hopkin RJ, Prada CE, Calabrese O, Rittinger O, Punaro MG, Markham AF, Bonthron DT.

Rheumatology (Oxford). 2010 Jun;49(6):1056-62. doi: 10.1093/rheumatology/keq048. Epub 2010 Mar 18.

PMID:
20299379
37.

CD154 induces p73 to overcome the resistance to apoptosis of chronic lymphocytic leukemia cells lacking functional p53.

Dicker F, Kater AP, Prada CE, Fukuda T, Castro JE, Sun G, Wang JY, Kipps TJ.

Blood. 2006 Nov 15;108(10):3450-7. Epub 2006 Jun 1.

38.

Thymidine-phosphorothioate oligonucleotides induce activation and apoptosis of CLL cells independently of CpG motifs or BCL-2 gene interference.

Castro JE, Prada CE, Aguillon RA, Kitada S, Fukuda T, Motta M, Wu C, Dicker F, Sun G, Wang JY, Carson DA, Reed JC, Kipps TJ.

Leukemia. 2006 Apr;20(4):680-8.

PMID:
16498393
39.

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